Panels | Number of analyses | Solved (%) | Number of genes (from 2015 to 2019) |
---|---|---|---|
Metabolic including mitochondrial diseases (singleton analysis) (IEM) | 849 | 274 (32%) | 610–870 |
Neuromuscular and ataxia disease (singleton analysis) (NMD) | 455 | 189 (42%) | 499–622 |
Targeted gene panel (HPO etc.) (singleton analysis) | 429 | 124 (29%) | Variable |
Severe infantile epilepsy (trio analysis) (EP) | 327 | 101 (31%) | 138–353 |
Immunology (singleton analysis) including neutropenia (PID) | 300 | 88 (29%) | 26–425 |
OMIM morbid gene panel (trio analysis) (OMIM-morbid) | 281 | 116 (41%) | 3103–3921 |
Intellectual disability and malformation syndromes (singleton analysis) (ID) | 304 | 119 (39%) | 885–987 |
Connective tissue disease (singleton analysis) (CTD) | 245 | 68 (28%) | 101–118 |
Skeletal dysplasia (singleton analysis) (SKD) | 212 | 115 (54%) | 376–468 |
Inherited cancer (singleton analysis) (IC) | 147 | 29 (20%) | 116–154 |
Disorder of sex development (singleton analysis) (DSD) | 68 | 17 (25%) | 118–130 |
Pediatric hepatology (singleton analysis) (PEDHEP) | 53 | 18 (34%) | 58–124 |
Ciliopathy (singleton analysis) (CIL) | 36 | 19 (53%) | 168–195 |
Neurodegenerative disorders (singleton analysis) (NDD) | 32 | 6 (19%) | 81–88 |
Fetal hydrops (singleton analysis) (FETHYD) | 12 | 6 (50%) | 57–104 |